ARX is an X-linked disorder that can include non-syndromic intellectual disability or a broader phenotype including intellectual disability of West syndrome (infantile spasms), Partington syndrome (dystonic movements, ataxia and seizures) or X-linked hydrocephalus with ambiguous genitalia. ARX is localized to Xp21.1. Two mutations, a 24bp duplication and a 21bp insertion, in exon 2 of ARX account for a significant proportion of the alterations within the gene. Carrier females have no discernable phenotype.

Indications

Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutation within a family to allow for carrier testing and prenatal diagnosis.

The specimen should be kept at room temperature and delivered via overnight shipping. FedEx is preferred. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.

Turnaround time

6 weeks

Prenatal testing

Prenatal diagnosis is available if the familial mutation is known. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.

CPT Codes

Unknown mutation: 81404

Known mutation: 81403

Deletion/Duplication Analysis: 81405

Cost

$900 for sequencing

$350 for known mutation

$700 for deletion/duplication analysis

$1000 for prenatal known mutation

Contact

For further information contact one of our
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at 1-800-473-9411.